(Q28305398)

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

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scholarly article

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis (English)

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congenital disorder

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photoreceptor protein

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Leber congenital amaurosis

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Geoffrey Karl Aguirre

6

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Samuel G. Jacobson

object named as

Samuel G Jacobson

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Anand Swaroop

12

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Edwin M Stone

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4

object named as

Hemant Khanna

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Artur V Cideciyan

1

object named as

Artur V Cideciyan

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Alexander Sumaroka

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object named as

Alexander Sumaroka

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Sharon Schwartz

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object named as

Sharon B Schwartz

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author name string

Tomas S Aleman

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Elizabeth A M Windsor

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Shirley He

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Bo Chang

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language of work or name

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publication date

November 2007

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28

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1074-83

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11

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Mutations in the CRB1 gene cause Leber congenital amaurosis

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Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

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Voxel-based morphometry–the methods

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

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Molecular genetics of Leber congenital amaurosis

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Human photoreceptor topography

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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Cilia and disease

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Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

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Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

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Genotype-phenotype correlation of mouse pde6b mutations

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Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

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